| children | - 3-M syndrome 702342007
- 46,XX disorder of sex development with skeletal anomalies syndrome 733621007
- 8q13 microdeletion syndrome 724147004
- Absent radius, anogenital anomalies syndrome 771264005
- Absent thumb with short stature and immunodeficiency syndrome 719685004
- Absent tibia, polydactyly, arachnoid cyst syndrome 733068001
- Acrocapitofemoral dysplasia 720416007
- Acrocephalopolysyndactyly type II 403767009
- Acrocephalopolysyndactyly type IV 733425005
- Acrocephalosyndactyly (Apert) 205258009
- Acrocephalosyndactyly type V 70410008
- Acrocraniofacial dysostosis 720418008
- Acrodysostosis 66758006
- Acrofacial dysostosis Catania type 720419000
- Acrofacial dysostosis Kennedy Teebi type 720427009
- Acrofacial dysostosis Palagonia type 720429007
- Acrofacial dysostosis Rodriguez type 720430002
- Acrofrontofacionasal dysostosis 720408003
- Acrofrontofacionasal dysostosis type 2 721835008
- Acromesomelic dysplasia Maroteaux type 718559000
- Acromicric dysplasia 254090007
- Acropectoral syndrome 720412009
- Acropectorovertebral dysplasia 720457000
- Acrorenal mandibular syndrome 720414005
- Acrorenoocular syndrome 720415006
- Actin accumulation myopathy 702349003
- Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy 725464001
- Adult-onset multiple mitochondrial deoxyribonucleic acid deletion syndrome due to deoxyguanosine kinase deficiency 733599009
- Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome 722281001
- Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome 722282008
- Agnathia, holoprosencephaly, situs inversus syndrome 722283003
- Alpha-B crystallin-related late-onset myopathy 783770002
- Amyotonia congenita 63135006
- Andersen Tawil syndrome 422348008
- Aneurysm osteoarthritis syndrome 785808002
- Angel-shaped phalangoepiphyseal dysplasia 720984008
- Aniridia and absent patella syndrome 720467005
- Ankylosing vertebral hyperostosis with tylosis syndrome 720492008
- Antley-Bixler syndrome 62964007
- Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome 733118006
- Arthrogryposis and ectodermal dysplasia syndrome 786039009
- Asymmetric crying face association 51409009
- Atelosteogenesis 43814000
- Auriculo-condylar syndrome 702443003
- Autosomal dominant centronuclear myopathy 716696006
- Autosomal dominant hypophosphatemic bone disease 237890006
- Autosomal dominant mandibular prognathism 778069004
- Autosomal dominant progressive external ophthalmoplegia 827115000
- Autosomal dominant spondylocostal dysostosis 716232002
- Autosomal recessive cutis laxa type 2A 784381008
- Autosomal recessive cutis laxa type 2B 778068007
- Autosomal recessive distal osteolysis syndrome 715487005
- Autosomal recessive hypophosphatemic bone disease 237891005
- Autosomal recessive lower motor neuron disease with childhood onset 771302009
- Autosomal recessive progressive external ophthalmoplegia 827117008
- Ballard syndrome 722298001
- Baller-Gerold syndrome 77608001
- Banki syndrome 733093004
- Benign congenital myopathy 193222002
- Blomstrand dysplasia 389237009
- Bone dysplasia Azouz type 720566004 removed: 2019-07-31
- Bone dysplasia lethal Holmgren type 732249002
- Brachydactyly and arterial hypertension syndrome 720568003
- Brachydactyly and distal symphalangism syndrome 732956000
- Brachydactyly and preaxial hallux varus syndrome 732957009
- Brachydactyly syndrome type B 389168002
- Brachydactyly type A1 715720006
- Brachydactyly type A4 715721005
- Brachydactyly type A6 715722003
- Brachydactyly type B2 770406002
- Brachydactyly, short stature, retinitis pigmentosa syndrome 782914000
- Brachyolmia 254088006
- Brachyolmia type 1 Toledo type 715671000 removed: 2019-07-31
- Brachytelephalangic chondrodysplasia punctata 778067002
- Branchiooculofacial syndrome 449821007
- Brody myopathy 703530005
- Campomelia Cumming type 720599002
- Camptobrachydactyly 733045005
- Camptodactyly and tall stature with scoliosis and hearing loss syndrome 720601000
- Camptodactyly syndrome Guadalajara type 1 720602007
- Camptodactyly syndrome Guadalajara type 2 720603002
- Camptodactyly taurinuria syndrome 733466005
- Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome 720600004
- Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome 771187008
- Cap myopathy 703532002
- Cardiocranial syndrome Pfeiffer type 720606005
- Cardiomyopathy with cataract and hip spine disease syndrome 720609003
- Cardiospondylocarpofacial syndrome 720612000
- Carpotarsal osteochondromatosis 389272007
- Catel Manzke syndrome 722383001
- Caveolin 3 related distal myopathy 711265009
- Cerebro-facio-thoracic dysplasia 720635002
- Cerebrofacioarticular syndrome 763353000
- Childhood-onset autosomal recessive myopathy with external ophthalmoplegia 787172004
- Childhood-onset spasticity with hyperglycinemia 773492007
- Choanal atresia with radial ray hypoplasia 232373003
- Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome 720640005
- Chondrodysplasia punctata Toriello type 715631005
- Chondrodysplasia punctata, Conradi-Hünermann type 22932004 removed: 2003-07-31
- Chondrodysplasia with disorder of sex development syndrome 720851007
- Chondrodysplasia with joint dislocations gPAPP type 782882009
- Chronic infantile neurological, cutaneous and articular syndrome 239826001
- Cleidocranial dysostosis 65976001
- Cleidorhizomelic syndrome 719471002
- Cloverleaf skull with multiple congenital anomalies syndrome 717771007
- Colobomatous microphthalmia, rhizomelic dysplasia syndrome 764942005
- Combined immunodeficiency with faciooculoskeletal anomalies syndrome 770625006
- Congenital bowing of long bone 716098006
- Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome 717812000
- Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome 773398005
- Congenital dystrophia brevicollis 388981000
- Congenital hypoplasia of ulna and intellectual disability syndrome 719842006
- Congenital hypoplasia of ulna and split foot syndrome 733030003
- Congenital lethal myopathy Compton North type 773306002
- Congenital myopathy with internal nuclei and atypical cores 764945007
- Congenital myopathy with myasthenic-like onset 763315005
- Congenital myotonia, autosomal dominant form 57938005
- Congenital myotonia, autosomal recessive form 20305008
- Congenital short costocoracoid ligament 725101002
- Connective tissue disorder due to lysyl hydroxylase-3 deficiency 763318007
- Cono-spondylar dysplasia 766874001
- Coxoauricular syndrome 732248005
- Coxopodopatellar syndrome 720752007
- Craniodiaphyseal dysplasia 205506004
- Craniofacial conodysplasia syndrome 720754008
- Craniofacial dysplasia osteopenia syndrome 773622005
- Craniofacial dyssynostosis syndrome 720755009
- Craniolenticulosutural dysplasia 725100001
- Craniomicromelic syndrome 725098001
- Cranioosteoarthropathy 720753002
- Craniosynostosis and dental anomalies syndrome 773332008
- Craniosynostosis and intracranial calcification syndrome 720816004
- Craniosynostosis Boston type 720817008
- Craniosynostosis fibular aplasia syndrome 732250002
- Craniosynostosis Philadelphia type 720818003
- Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome 720813007
- Craniosynostosis with facial dysmorphism and brachydactyly syndrome 720814001 removed: 2019-07-31
- Craniosynostosis, anal anomaly, porokeratosis syndrome 720812002
- Crisponi syndrome 725097006
- Crouzon syndrome with acanthosis nigricans 702361006
- Cryptomicrotia brachydactyly syndrome 725096002
- Cutis gyrata syndrome of Beare and Stevenson 703528008
- Cutis laxa, x-linked 59399004
- Cyprus facial neuromusculoskeletal syndrome 732261005
- Cystinuria, type 1 37183000
- Czech dysplasia metatarsal type 720826006
- Dacryocystitis and osteopoikilosis syndrome 721082002
- Deafness, encephaloneuropathy, obesity, valvulopathy syndrome 763688008
- Dermatoosteolysis Kirghizian type 721090002
- Desbuquois syndrome 254099008
- Desmin-related myofibrillar myopathy 770627003
- Desmosterolosis 709490002
- Diaphanospondylodysostosis 721094006
- Diaphragmatic defect, limb deficiency, skull defect syndrome 721095007
- Diastrophic dysplasia 58561002
- Digital extensor muscle aplasia with polyneuropathy 771261002
- Dislocation of hip and facial dysmorphism syndrome 763755009
- Disorder of skeletal system co-occurrent and due to Marfan syndrome 16052791000119105
- Distal arthrogryposis type 4 715575001
- Distal limb deficiency with micrognathia syndrome 722429003
- DK phocomelia syndrome 719021005
- DNA2-related mitochondrial DNA deletion syndrome 783057002
- DOORS syndrome 719800009
- Doughnut lesion of calvaria and bone fragility syndrome 720598005
- Duane anomaly, myopathy, scoliosis syndrome 722432000
- Dyggve-Melchior-Clausen syndrome 82699004
- Dyschondrosteosis and nephritis syndrome 722433005
- Dysostosis multiplex group 279081001
- Dysplasia epiphysealis hemimelica 205480005
- Dyssegmental dysplasia Silverman Handmaker type 765204000
- Ectrodactyly polydactyly syndrome 771177009
- Ehlers-Danlos syndrome 398114001
- Endocrine-cerebro-osteodysplasia syndrome 723309006
- Enlarged parietal foramina 718099006
- Epilepsy, microcephaly, skeletal dysplasia syndrome 733031004
- Exostosis, anetoderma, brachydactyly type E syndrome 733416004
- Extensor tendons of finger anomalies 782937006
- External auditory canal atresia, vertical talus, hypertelorism syndrome 783774006
- Familial avascular necrosis of femoral head 715657008
- Familial chondromalacia patellae 726628003
- Familial digital arthropathy and brachydactyly syndrome 717192003
- Familial dyskinesia and facial myokymia 763352005
- Familial osteochondritis dissecans 715899006
- Familial scaphocephaly syndrome McGillivray type 725030006
- Familial Scheuermann disease 725411000
- FASTKD2-related infantile mitochondrial encephalomyopathy 778029000
- Fatal infantile hypertonic myofibrillar myopathy 782883004
- FGFR2-related bent bone dysplasia 778008009
- Fibrochondrogenesis 17144009
- Fibular aplasia and complex brachydactyly 715474004
- Fibular aplasia and ectrodactyly syndrome 720952001
- Filippi syndrome 720954000
- Fine Lubinsky syndrome 720955004
- Fountain syndrome 720957007
- Francois syndrome 254150007
- Frank-Ter Haar syndrome 720958002
- Freeman-Sheldon syndrome 52616002
- Frontonasal dysplasia with alopecia and genital anomaly syndrome 725029001
- Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome 773628009
- Fryns syndrome 702432006
- Fuhrmann syndrome 721296004
- Genetically determined myasthenia 230669004
- Genochondromatosis type 2 725904009
- Geroderma osteodysplastica 254116003
- Glycogen storage disease, muscular form 15978003
- Glycogen synthase deficiency 237964009
- Gnathodiaphyseal dysplasia 715568002
- Goldblatt syndrome 717823001
- Goldenhar syndrome 205418005
- Gollop syndrome 716022002
- Gollop Wolfgang complex 716006003
- Grant syndrome 723827003
- Granulomatous inflammatory arthritis, dermatitis and uveitis, familial 699861000
- Grebe syndrome 77542002
- Guttmacher syndrome 722452004
- Hallux varus, preaxial polysyndactyly syndrome 771180005
- Haspeslagh Fryns Muelenaere syndrome 716090004
- Heart defect and limb shortening syndrome 721009008
- Heart-hand syndrome Slovenian type 721014007
- Heide syndrome 716189005
- Hereditary acroosteolysis 254148004
- Hereditary arterial and articular multiple calcification syndrome 718602007
- Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome 771306007
- Hereditary inclusion body myopathy type 4 770786001
- Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome 724349009
- Hereditary myopathy with early respiratory failure 702373006
- Hereditary progressive muscular dystrophy 193225000
- High bone mass osteogenesis imperfecta 782781006
- Hirschsprung disease with nail hypoplasia and dysmorphism 721223002
- Holt-Oram syndrome 19092004
- Holzgreve syndrome 783159001
- Horizontal gaze palsy with progressive scoliosis 702381007
- Hunter McAlpine craniosynostosis syndrome 721227001
- Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome 721229003
- Hydrocephalus, tall stature, joint laxity syndrome 732926009
- Hypermobility syndrome 85551004
- Hypertelorism Teebi type 724284005
- Hypertelorism with microtia and facial clefting syndrome 721836009
- Hypertelorism, preauricular sinus, punctual pits, deafness syndrome 773667003
- Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome 718713000
- Hypomandibular faciocranial dysostosis 721845005
- Hypoplasia and coloboma of alar cartilage with telecanthus syndrome 722284009
- Hypoplastic tibia and postaxial polydactyly syndrome 716741008
- Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection syndrome 771333006
- Inclusion body myopathy 2 702382000
- Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 703544004
- Inherited spastic paresis 16728003
- Intellectual disability with cataract and kyphosis syndrome 722003007
- Intellectual disability, cataract, calcified pinna, myopathy syndrome 726709001
- Intellectual disability, developmental delay, contracture syndrome 722456001
- Intellectual disability, myopathy, short stature, endocrine defect syndrome 764959000
- Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome 770755007
- Jackson-Weiss syndrome 709105005
- Jarcho-Levin syndrome 61367005
- Jeune thoracic dystrophy 75049004
- Juberg Hayward syndrome 721874001
- Juvenile hyaline fibromatosis 238861002
- Karsch Neugebauer syndrome 722032005
- Keipert syndrome 763774001
- Keutel syndrome 724208006
- King Denborough syndrome 764957003
- Larsen syndrome 63387002
- Larsen-like syndrome B3GAT3 type 763778003
- Laryngeal abductor paralysis with intellectual disability syndrome 724178000
- Late-onset distal myopathy Markesbery Griggs type 770558006
- Leigh syndrome with nephrotic syndrome 783157004
- Lethal congenital contracture syndrome type 2 715419004
- Lethal congenital contracture syndrome type 5 763346009
- Lethal infantile mitochondrial myopathy 766251006
- Lethal Larsen-like syndrome 719409004
- Lethal multiple pterygium syndrome 60192008
- Lethal occipital encephalocele, skeletal dysplasia syndrome 773672007
- Lethal recessive chondrodysplasia 719404009
- Leukoencephalopathy with metaphyseal chondrodysplasia syndrome 719405005
- Liebenberg syndrome 764437006
- Lipid storage myopathy 240095001
- Lipodystrophy, intellectual disability, deafness syndrome 721973006
- Lissencephaly syndrome Norman Roberts type 717977003
- Lissencephaly type 3 metacarpal bone dysplasia syndrome 718720007
- Long thumb brachydactyly syndrome 733454004
- Lowry MacLean syndrome 721974000
- MacDermot Winter syndrome 716023007
- Macrostomia, preauricular tag, external ophthalmoplegia syndrome 723366001
- Macular coloboma, cleft palate, hallux valgus syndrome 722463001
- Majeed syndrome 703540008
- Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome 722459008
- Malignant hyperthermia with arthrogryposis and torticollis syndrome 719398004
- Mammary digital nail syndrome 718679004
- Mandibular hypoplasia, deafness, progeroid syndrome 773406003
- Mandibuloacral dysostosis 109419009
- Marshall-Smith syndrome 73284007
- Maternally inherited mitochondrial cardiomyopathy and myopathy 472320005
- Menkes kinky-hair syndrome 59178007
- Mesomelic dysplasia Kantaputra type 719397009
- Metabolic myopathy due to lactate transporter defect 766715000
- Metachondromatosis 205481009
- Metaphyseal chondrodysplasia, McKusick type 7720002
- Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria 724146008
- Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome 733419006
- Metaphyseal dysplasia Braun Tinschert type 717221005
- Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome 724145007
- Microbrachycephaly, ptosis, cleft lip syndrome 723403008
- Microcephalic osteodysplastic dysplasia Saul Wilson type 723404002
- Microcephalic osteodysplastic primordial dwarfism types I and III 725461009
- Microcephalus with brachydactyly and kyphoscoliosis syndrome 719378009
- Microcephaly with cervical spine fusion anomaly 715462003
- Microspherophakia with metaphyseal dysplasia syndrome 724140002
- Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early onset osteoarthritis 715670004
- Mirror hands and feet co-occurrent with nasal defect 715440003
- Mitochondrial DNA depletion syndrome encephalomyopathic form 765401006
- Mitochondrial myopathy with reversible cytochrome C oxidase deficiency 784370005
- Mitochondrial myopathy with sideroblastic anemia syndrome 724138007
- Mitochondrial neurogastrointestinal encephalomyopathy syndrome 718214007
- Morava Mehes syndrome 719843001
- Morquio syndrome 378007
- Muenke syndrome 787407003
- Multicentric carpotarsal osteolysis syndrome 766992008
- Multicentric osteolysis nodulosis arthropathy spectrum 716868003
- Multiple congenital anomalies, hypotonia, seizures syndrome 785303004
- Multiple congenital exostosis 254044004
- Multiple osteochondroma 716742001
- Muscle AMP deaminase deficiency 9105005
- Muscle filaminopathy 764992006
- Muscle L-lactate dehydrogenase deficiency 55783001
- Muscle phosphoglycerate mutase deficiency 61772003
- Muscular dystrophy Selcen type 723407009
- Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome 773584001
- Myopathy due to calsequestrin and SERCA1 protein overload 724095006
- Myopathy with deficiency of iron-sulfur cluster assembly enzyme 699268002
- Myosclerosis 763895001
- Nail-patella syndrome 22199006
- Nathalie syndrome 716170005
- Native American myopathy 723439002
- Nestor Guillermo progeria syndrome 773331001
- Non dystrophic myotonia 424795008
- Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome 723442008
- Oculootoradial syndrome 722019000
- Oliver syndrome 721017000
- Omodysplasia 725164008
- Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome 722108000
- Osteocraniostenosis 722109008
- Osteopathia striata, pigmentary dermopathy, white forelock syndrome 787408008
- Osteopenia, intellectual disability, sparse hair syndrome 732954002
- Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome 722111004
- Osteopetrosis 1926006
- Osteoporosis and oculocutaneous hypopigmentation syndrome 722113001
- Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome 733064004
- Osteosclerosis 49347007
- Osteosclerosis, developmental delay, craniosynostosis syndrome 722117000
- Oto-onycho-peroneal syndrome 441944007
- Otopalatodigital syndrome 767130007 removed: 2019-07-31
- Otopalatodigital syndrome spectrum disorder 784010006
- Pachydermoperiostosis syndrome 88220006
- Pacman dysplasia 722127006
- Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome 722207000
- Papillon-Lefèvre syndrome 40158001
- Parana hard skin syndrome 783013001
- Parastremmatic dwarfism 722210007
- Parietal foramina with clavicular hypoplasia 771338002
- Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome 722211006
- Patterson Stevenson Fontaine syndrome 724069009
- Pelvic dysplasia, arthrogryposis of lower limbs syndrome 783140003
- Pelvis shoulder dysplasia 719298001
- Pelviscapular dysplasia 719299009
- Peripheral dysostosis 773985008
- Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome 782752005
- Poikiloderma, alopecia, retrognathism, cleft palate syndrome 771186004
- Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 702347001
- Polydactyly of triphalangeal thumb 715710001
- Polyglucosan body myopathy type 1 774148007
- Polyostotic fibrous dysplasia of bone 36517007
- Postaxial polydactyly, dental, vertebral anomalies syndrome 773279006
- Postaxial tetramelic oligodactyly 770946000
- Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome 724064004
- Potassium aggravated myotonia 702355008
- Progressive external ophthalmoplegia, myopathy, emaciation syndrome 764733009
- Progressive myositis ossificans 82725007
- Proximal myopathy with extrapyramidal signs 770722002
- Proximal myotonic myopathy 715317001
- Prune belly syndrome 5187006
- Pseudodiastrophic dysplasia 254058002
- Puerto Rican infant hypotonia syndrome 721887007
- Pyknoachondrogenesis 719258003
- Pyle metaphyseal dysplasia 27837003
- Pyogenic arthritis, pyoderma gangrenosum, acne syndrome 724015007
- Radial aplasia-thrombocytopenia syndrome 85589009
- Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome 721882001
- Raine dysplasia 389239007
- Reardon Hall Slaney syndrome 715471007
- Reinhardt Pfeiffer mesomelic dysplasia 715472000
- Retinal detachment and occipital encephalocele 703542000
- Reunion Island Larsen-like syndrome 783559007
- Rhizomelic chondrodysplasia punctata syndrome 56692003
- Rhizomelic syndrome Urbach type 770948004
- RHYNS syndrome 723999009
- Richieri Costa-da Silva syndrome 782941005
- Robinow syndrome 76520005
- Roifman syndrome 773404000
- Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome 774150004
- Saito Kuba Tsuruta syndrome 716094008
- Saldino-Mainzer dysplasia 254092004
- SCARF syndrome 734173003
- Schimke immuno-osseous dysplasia 723995003
- Schmitt Gillenwater Kelly syndrome 716092007
- Scholte syndrome 722002002
- Schwartz-Jampel syndrome 29145002
- Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome 722114007
- Seckel syndrome 57917004
- Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome 717266001
- Severe achondrolasia with developmental delay and acanthosis nigricans 699870002
- Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome 723676007
- Severe X-linked mitochondrial encephalomyopathy 722212004
- Short fifth metacarpal insulin resistance syndrome 721069005
- Short rib polydactyly syndrome Saldino Noonan type 726032008
- Short rib-polydactyly syndrome, Majewski type 72922008
- Short stature locking fingers syndrome 726734001
- Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome 774155009
- Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome 773625007
- Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome 723998001
- Short stature, pituitary and cerebellar defect and small sella turcica syndrome 721072003
- Short tarsus with absence of lower eyelashes syndrome 721075001
- Short ulna, dysmorphism, hypotonia, intellectual disability syndrome 773556006
- Short-limb skeletal dysplasia with severe combined immunodeficiency 789777007
- Shprintzen Goldberg craniosynostosis syndrome 719069008
- Shwachman syndrome 89454001
- Skeletal dysplasia brachydactyly syndrome 733095006
- Skeletal dysplasia with epilepsy and short stature syndrome 715428003
- Skeletal dysplasia with intellectual disability syndrome 722478008
- Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome 733468006
- Smith McCort dysplasia 715862006
- Spastic paraparesis and deafness 715504003
- Spastic paraplegia with Paget disease of bone syndrome 726622002
- Spheroid body myopathy 765092004
- Splenogonadal fusion, limb defect, micrognathia syndrome 726724005
- Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome 732927000
- Spondylo-megaepiphyseal-metaphyseal dysplasia 773693005
- Spondylo-ocular syndrome 715653007
- Spondylocamptodactyly syndrome 716231009
- Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome 723610009
- Spondylocostal dysostosis, hypospadias, intellectual disability syndrome 773578004
- Spondyloenchondrodysplasia with immune dysregulation 703523004
- Spondyloenchondromatosis 389268008
- Spondyloepimetaphyseal dysplasia aggrecan type 719165004
- Spondyloepimetaphyseal dysplasia anauxetic type 764460003
- Spondyloepimetaphyseal dysplasia Bieganski type 773301007
- Spondyloepimetaphyseal dysplasia Genevieve type 773303005
- Spondyloepimetaphyseal dysplasia Handigodu type 763885008
- Spondyloepimetaphyseal dysplasia Irapa type 717330004
- Spondyloepimetaphyseal dysplasia matrilin-3 type 719166003
- Spondyloepimetaphyseal dysplasia Missouri type 719171005
- Spondyloepimetaphyseal dysplasia PAPSS2 type 719172003
- Spondyloepimetaphyseal dysplasia Shohat type 719201004
- Spondyloepimetaphyseal dysplasia with multiple dislocations 766820007
- Spondyloepimetaphyseal dysplasia, abnormal dentition syndrome 773302000
- Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome 773300008
- Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome 766821006
- Spondyloepiphyseal dysplasia Cantu type 718765003
- Spondyloepiphyseal dysplasia Kimberley type 719203001
- Spondyloepiphyseal dysplasia MacDermot type 718763005
- Spondyloepiphyseal dysplasia Maroteaux type 719204007
- Spondyloepiphyseal dysplasia Reardon type 718764004
- Spondyloepiphyseal dysplasia tarda 51952004
- Spondyloepiphyseal dysplasia with congenital joint dislocations 702400006
- Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome 718766002
- Spondylometaphyseal dysplasia 784006008
- Spondyloperipheral dysplasia 702339001
- Sterile multifocal osteomyelitis with periostitis and pustulosis 773702002
- Stewart-Morel-Morgagni syndrome 782167001
- Stickler syndrome 78675000
- Stickler syndrome type 3 783097004
- Summitt syndrome 733606001
- Symphalangism with multiple anomalies of hands and feet syndrome 732955001
- Syndactyly, camptodactyly and clinodactyly of fifth fingers, bifid toes syndrome 783553008
- Tall stature, scoliosis, macrodactyly of great toe syndrome 770788000
- Talo-patello-scaphoid osteolysis syndrome 723580007
- Tarsal-carpal coalition syndrome 702312009
- Teebi Shaltout syndrome 771265006
- Tel Hashomer camptodactyly syndrome 719946008
- Temtamy preaxial brachydactyly syndrome 777998000
- Temtamy syndrome 719947004
- Tetramelic monodactyly 770945001
- Thickened earlobe with conductive deafness syndrome 722476007
- Thoracic dysplasia and hydrocephalus syndrome 782951006
- Thoracolaryngopelvic dysplasia 723556008
- Thoracomelic dysplasia 783003009
- Thrombocythemia with distal limb defect 771511005
- Thumb stiffness, brachydactyly, intellectual disability syndrome 733117001
- Tibial aplasia and ectrodactyly syndrome 715531000
- TMEM70 related mitochondrial encephalo-cardio-myopathy 718212006
- Torticollis, keloids, cryptorchidism, renal dysplasia syndrome 771266007
- Treacher Collins syndrome 82203000
- Trichorhinophalangeal syndrome type 1 and 3 818959006
- Triglyceride storage disease with ichthyosis 19604005
- Trigonocephaly with broad thumb syndrome 719949001
- Trigonocephaly, short stature, developmental delay syndrome 733066002
- Triphalangeal thumb and dislocation of patella syndrome 733456002
- Triphalangeal thumb and polysyndactyly syndrome 719950001
- Triphalangeal thumb with brachyectrodactyly syndrome 719951002
- Ulna metaphyseal dysplasia syndrome 715242008
- Upington disease 719041000
- Van den Bosch syndrome 733110004
- Velofacioskeletal syndrome 763616002
- Vitamin D-dependent rickets 68295002
- White forelock with malformations syndrome 763619009
- Whyte Hemingway carpal tarsal phalangeal osteolyses 389274008
- X-linked calvarial hyperostosis 782786001
- X-linked dominant chondrodysplasia Chassaing Lacombe type 719837003
- X-linked dominant chondrodysplasia punctata of Happle 403778001
- X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome 719157002
- X-linked intellectual disability with ataxia and apraxia syndrome 718845002
- X-linked intellectual disability with cubitus valgus and dysmorphism syndrome 719138006
- X-linked intellectual disability with plagiocephaly syndrome 719812008
- X-linked mandibulofacial dysostosis 719813003
- X-linked myopathy with excessive autophagy 719815005
- X-linked myopathy with postural muscle atrophy 773729007
- X-linked osteoporosis with fractures 782785002
- X-linked parkinsonism with spasticity syndrome 770757004
- X-linked spasticity, intellectual disability, epilepsy syndrome 725163002
- X-linked spondyloepimetaphyseal dysplasia 770603000
- Zechi Ceide syndrome 773307006
|
Quick, Current, Complete - www.findacode.com